U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

Summary

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2) is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech (Alanay et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of CFSMR, see CFSMR1 (213980). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C20orf24, CFSMR2, OPTI, PNAS-11, RCAF1, RIP5, RAB5IF
    Summary: RAB5 interacting factor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.